Variant report

Variant	rs16848794
Chromosome Location	chr1:224680667-224680668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224663142..224665952-chr1:224678882..224681699,2	K562	blood:
2	chr1:224640045..224642435-chr1:224680202..224683058,2	MCF-7	breast:
3	chr1:224679447..224681226-chr1:224689931..224692404,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11801211	0.92[ASW][hapmap]
rs11802182	0.92[ASW][hapmap]
rs11809688	0.84[YRI][hapmap]
rs11809710	1.00[ASW][hapmap]
rs11812007	0.85[ASW][hapmap]
rs16846212	0.92[ASW][hapmap]
rs16846293	0.92[ASW][hapmap]
rs16846339	0.92[ASW][hapmap]
rs16847675	0.88[YRI][hapmap]
rs16847784	0.92[ASW][hapmap];0.84[YRI][hapmap]
rs16847867	1.00[ASW][hapmap]
rs16847870	0.84[YRI][hapmap]
rs16847871	0.92[ASW][hapmap];0.84[YRI][hapmap]
rs16848356	0.88[YRI][hapmap]
rs1857042	0.88[YRI][hapmap]
rs4559465	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59804672	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6681611	0.92[YRI][hapmap]
rs6687735	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6702649	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224677200-224680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224677200-224685000	Weak transcription	NHLF	lung
3	chr1:224677400-224681000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:224677600-224682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224677600-224683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:224677800-224683400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:224677800-224685400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:224678000-224683000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:224678200-224683200	Weak transcription	Osteobl	bone
12	chr1:224678800-224682600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:224679200-224683400	Weak transcription	HSMM	muscle
14	chr1:224679800-224689600	Weak transcription	Pancreas	Pancrea
15	chr1:224680000-224681000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:224680000-224683000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:224680000-224685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:224680400-224680800	Enhancers	NHDF-Ad	bronchial
19	chr1:224680400-224681000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:224680400-224681600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr1:224680400-224682000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:224680400-224682000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:224680600-224682000	Enhancers	HUES48 Cell Line	embryonic stem cell

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